Ingrid Nermoen

• Stokland, Ann-Elin Meling; Breivik, Lars; Dalen, Ingvild; Steintorsdottir, Sandra Dis; Kildal, Simon & Nermoen, Ingrid [Show all 30 contributors for this article] (2026). Risk and outcomes of adrenal crisis in primary adrenal insufficiency: Evidence from a 24‐year nationwide cohort study. Journal of Internal Medicine. ISSN 0954-6820. doi: 10.1111/joim.70153. Full text in Research Archive Show summary

  Background: Adrenal crisis is a life‐threatening emergency. Despite preventive strategies, previous reports suggest increasing incidence and substantial mortality, but robust validated data are limited. Objective: To assess temporal trends in adrenal crisis incidence and identify associated risk factors. Methods: We studied 1040 patients with autoimmune or idiopathic primary adrenal insufficiency enrolled in the Norwegian Addison Registry. Medical records were reviewed for crisis‐related hospitalizations between 2000 and 2023. Overt adrenal crisis was defined by acute clinical deterioration with hemodynamic or biochemical abnormalities, whereas incipient crisis was defined by typical symptoms without objective abnormalities. Results: During a median follow‐up of 15 years, 660 patients (63%) experienced crisis‐related hospitalizations, and 265 (25%) had an overt adrenal crisis after diagnosis. The incidence of overt crises was 3.2 per 100 person‐years and that of incipient crises was 6.9 per 100 person‐years. Admission rates for incipient crises increased significantly over time ( p  < 0.001), whereas overt crisis rates remained stable. Among 1754 admissions, five deaths (0.3%) were attributed to adrenal crisis. Both younger and older age ( p  < 0.001) and type 1 diabetes (incidence rate ratio 2.09, 95% confidence interval 1.45–3.01; p  < 0.001) were associated with increased overt crisis risk. Daily corticosteroid dose was not associated with crisis risk. Prehospital stress dosing was used in about 50% of admissions. Conclusions: Overt adrenal crisis was uncommon and crisis‐related in‐hospital mortality was exceptionally low. Crisis risk was independent of replacement dose but increased in patients with type 1 diabetes. Strengthening education and implementation of prehospital stress dosing may further reduce the burden of adrenal crises.

• Kucuka, Isil; Wolff, Anette Susanne Bøe; Breivik, Lars; Sjøgren, Thea; Bratland, Eirik & Grytaas, Marianne Aardal [Show all 22 contributors for this article] (2026). Long-term follow-up of autoimmune polyendocrine syndrome type-1 in Norway. Journal of Clinical Endocrinology and Metabolism (JCEM). ISSN 0021-972X. doi: 10.1210/clinem/dgag060. Full text in Research Archive Show summary

  Context Autoimmune polyendocrine syndrome type-1 (APS-1) is a rare, yet severe multiorgan autoimmune disease caused by mutations in the Autoimmune Regulator (AIRE) gene. Classical APS-1 arises from biallelic recessive AIRE mutations, whereas dominant negative mutations cause a milder, non-classical phenotype with variable clinical presentation. Due to its rarity, long-term, population-based data are limited, underscoring the need for extended follow-up to guide lifelong care and research. Objective To characterize the clinical profiles of APS-1 and explore associations between disease manifestations, autoantibody profiles, and AIRE mutations over an extended follow-up (1996-2025). Patients All known Norwegian patients with APS-1. Methods We analysed longitudinal clinical and laboratory data of 71 APS-1 patients (49 classical, 22 non-classical) from the Norwegian Registry of Organ-specific Autoimmune Diseases. Data included clinical progression, autoantibody and cytokine profiles, and AIRE genotypes. Additionally, we compared age at diagnosis of primary adrenal insufficiency (PAI) in patients with and without (n=999) APS-1. Results In classical APS-1, the most frequent clinical manifestations were chronic mucocutaneous candidiasis, enamel hypoplasia, and PAI, while for non-classical APS-1 vitiligo, hypothyroidism, and PAI were most common. A broad pro-inflammatory cytokine signature was observed in classical APS-1, along with increased levels of the soluble form of the IFN-α/β receptor. Conclusion APS-1 should be considered in patients diagnosed with PAI before age 20, and AIRE sequencing is recommended for diagnostic confirmation. The presence of IFN-ω autoantibodies, a pro-inflammatory cytokine profile, and increased soluble IFN receptor levels further support the role of dysregulated interferon responses in APS-1 pathogenesis.

• Singstad, Tone; Holmen, Heidi; Hagen, Milada; Nermoen, Ingrid; Ribu, Lis & Torbjørnsen, Astrid (2025). Patient-related and organisational characteristics associated with late cancellations and non-attendance in diabetes outpatient care: a cross-sectional study. BMJ Open. 15(10), p. 1–8. doi: 10.1136/bmjopen-2025-102880. Full text in Research Archive
• Arlien-Søborg, Mai C.; Dal, Jakob; Heck, Ansgar; Stochholm, Kirstine; Husted, Eigil & Feltoft, Claus Larsen [Show all 48 contributors for this article] (2024). Acromegaly management in the Nordic countries: A Delphi consensus survey. Clinical Endocrinology. ISSN 0300-0664. 101(3), p. 263–273. doi: 10.1111/cen.15095. Full text in Research Archive
• Hatlen, Kristine Vaage; Lensnes, Therese Margrethe Lysell; Henriksen, Christine; Berg, Tore Julsrud; Nermoen, Ingrid & Lundin, Knut (2024). Suboptimal adherence to a gluten-free diet in adults with both type 1 diabetes and celiac disease using urinary gluten immunogenic peptide measurement. Scandinavian Journal of Gastroenterology. ISSN 0036-5521. 60(1), p. 28–36. doi: 10.1080/00365521.2024.2442688. Full text in Research Archive Show summary

  Objectives Concurrent type 1 diabetes (T1D) and celiac disease (CeD) pose challenges in insulin dosage adjustments and gluten-free dietary adherence. Urine testing for gluten immunogenic peptides (GIP) is a new method to detect gluten exposure within the last 3–12 h. Our aims were to compare gluten-free dietary adherence between T1D + CeD and CeD individuals and evaluate urinary GIP testing in an outpatient setting. Materials and methods This observational cross-sectional study included three adult groups: (1) T1D and CeD, (2) CeD only, and (3) T1D only. T1D participants were recruited from outpatient clinics, the CeD group via social media. One urine sample (12 pm–7 pm) was analyzed using a qualitative immunographic GIP test. CeD participants completed ‘Celiac Dietary Adherence Test’ (CDAT) and ‘Celiac Symptom Index’ (CSI) questionnaires. IgA anti-transglutaminase 2 (IgA-TG2) and IgG anti-deamidated gliadin (IgG-DGP) serology were also analyzed. Results 197 participants, mean (SD) age 43 (15) years, were included. Female percentages were: CeD: 90%, T1D + CeD: 64%, and T1D: 47%. Positive urinary GIP was found in 15% (14/96) of T1D + CeD and 0% (0/50) of CeD (p = 0.002). As expected, most T1D only participants had positive urinary GIP (86%, 44/51). CDAT and CSI scores did not differ between T1D + CeD and CeD groups. Positive IgA-TG2 and/or IgG-DGP levels were found in 12% of T1D + CeD and 6% of CeD participants (p = 0.38). Conclusions A single GIP urine test revealed higher gluten exposure in T1D + CeD versus CeD only, questioning dietary adherence in this population. Urinary GIP tests can be useful for clinical follow-up.

• Sharma, Archana; Birkeland, Kåre Inge; Nermoen, Ingrid; Sommer, Christine; Qvigstad, Elisabeth & Lee-Ødegård, Sindre [Show all 11 contributors for this article] (2024). N-terminal pro-B-type natriuretic peptide levels vary by ethnicity and are associated with insulin sensitivity after gestational diabetes mellitus. Cardiovascular Diabetology. 23(1). doi: 10.1186/s12933-024-02349-1. Full text in Research Archive Show summary

  Background Individuals of South Asian origin have a greater risk of cardiovascular disease after gestational diabetes mellitus (GDM) than European individuals. B-type natriuretic peptide (BNP) and the amino-terminal fragment of its prohormone (NT-proBNP) are commonly used for heart failure screening and diagnosis, but biologically BNP exerts several beneficial cardiovascular effects primarily by counteracting the renin-angiotensin-aldosterone-system. We asked whether ethnic differences in circulating NT-proBNP levels could be explained by the differences in cardiometabolic and inflammatory risk markers? Methods We examined 162 South Asian and 107 Nordic women in Norway 1–3 years after GDM with a clinical examination, fasting blood samples and an oral glucose tolerance test. We measured the levels of NT-proBNP, high-sensitivity cardiac troponin T, high-sensitivity C-reactive protein (hsCRP), interleukin-6 (IL-6), leptin, adiponectin and markers of insulin sensitivity, such as the Matsuda insulin sensitivity index (ISI). Finally, we tried to identify which independent covariate best mediated the ethnic differences in NT-proBNP. Results The mean (SD) age was 35.3 (4.5) years, BMI 29.1 (6.0) kg/m2, waist-height ratio 0.60 (0.08) and 164 women (61%) had prediabetes/diabetes. Notably, South Asian women had lower levels of NT-proBNP than Nordic women in both the normoglycemic and prediabetes/diabetes groups (median (IQR) 26  (15–38)  vs. 42 (22–66) ng/L, p < 0.001). Higher NT-proBNP levels were associated with greater insulin sensitivity in both South Asian and Nordic women (p = 0.005 and p < 0.001). South Asian women had higher levels of hsCRP (median (IQR) 2.2 (1.1–4.4) vs. 1.2 (0.3–4.2) mg/L), IL-6 (2.3 (1.5–3.2) vs. 1.5 (1.5–2.5) pg/mL), leptin (1647 (1176–2480) vs. 1223 (876–2313) pmol/L), and lower adiponectin levels (7.2 (5.3–9.3) vs. 10.0 (7.2–13.5) mg/L) and Matsuda ISI (2.4 (1.7–3.7) vs. 4.2 (2.9–6.1), pall<0.01) than Nordic women. Even after adjusting for these differences, higher NT-proBNP levels remained associated with insulin sensitivity (22% higher NT-proBNP per SD Matsuda ISI, p = 0.015). Insulin sensitivity and adiponectin mediated 53% and 41% of the ethnic difference in NT-proBNP. Conclusions NT-proBNP levels are lower in South Asian than in Nordic women after GDM. Lower NT-proBNP levels correlate with impaired insulin sensitivity. Lower NT-proBNP levels in South Asian women could, therefore, be attributed to impaired insulin sensitivity rather than total body fat.

• Kvist, Ahalya Anita Suntharalingam; Sharma, Archana; Sommer, Christine; Qvigstad, Elisabeth; Gulseth, Hanne Løvdal & Sollid, Stina Therese [Show all 12 contributors for this article] (2024). Adipose Tissue Insulin Resistance in South Asian and Nordic Women after Gestational Diabetes Mellitus. Metabolites. 14(5). doi: 10.3390/metabo14050288. Full text in Research Archive Show summary

  South Asians (SAs) have a higher risk of developing type 2 diabetes (T2D) than white Europeans, especially following gestational diabetes mellitus (GDM). Despite similar blood glucose levels post-GDM, SAs exhibit more insulin resistance (IR) than Nordics, though the underlying mechanisms are unclear. This study aimed to assess markers of adipose tissue (AT) IR and liver fat in SA and Nordic women post-GDM. A total of 179 SA and 108 Nordic women in Norway underwent oral glucose tolerance tests 1–3 years post-GDM. We measured metabolic markers and calculated the AT IR index and non-alcoholic fatty liver disease liver fat (NAFLD-LFS) scores. Results showed that normoglycaemic SAs had less non-esterified fatty acid (NEFA) suppression during the test, resembling prediabetes/T2D responses, and higher levels of plasma fetuin-A, CRP, and IL-6 but lower adiponectin, indicating AT inflammation. Furthermore, normoglycaemic SAs had higher NAFLD-LFS scores, lower insulin clearance, and higher peripheral insulin than Nordics, indicating increased AT IR, inflammation, and liver fat in SAs. Higher liver fat markers significantly contributed to the ethnic disparities in glucose metabolism, suggesting a key area for intervention to reduce T2D risk post-GDM in SAs.

• Sævik, Åse Bjorvatn; Ueland, Grethe Åstrøm; Åkerman, Anna-Karin; Methlie, Paal; Quinkler, Marcus & Jørgensen, Anders Palmstrøm [Show all 26 contributors for this article] (2023). Altered biomarkers for cardiovascular disease and inflammation in autoimmune Addison's disease - a cross-sectional study. European Journal of Endocrinology (EJE). ISSN 0804-4643. 189(4), p. 438–447. doi: 10.1093/ejendo/lvad136. Full text in Research Archive Show summary

  Increased prevalence of cardiovascular disease has been reported in autoimmune Addison's disease (AAD), but pathomechanisms are poorly understood. Design Cross-sectional study. Methods We compared serum levels of 177 cardiovascular and inflammatory biomarkers in 43 patients with AAD at >18-h glucocorticoid withdrawal and 43 matched controls, overall and stratified for sex. Biomarker levels were correlated with the frequency of adrenal crises and quality of life (QoL) by AddiQoL-30. Finally, we investigated changes in biomarker levels following 250 µg tetracosactide injection in patients without residual adrenocortical function (RAF) to explore glucocorticoid-independent effects of high ACTH. Results Nineteen biomarkers significantly differed between patients with AAD and controls; all but 1 (ST1A1) were higher in AAD. Eight biomarkers were significantly higher in female patients compared with controls (IL6, MCP1, GAL9, SPON2, DR4, RAGE, TNFRSF9, and PGF), but none differed between male patients and controls. Levels of RAGE correlated with the frequency of adrenal crises (r = 0.415, P = .006) and AddiQoL-30 scores (r = −0.347, P = .028) but not after correction for multiple testing. PDL2 and leptin significantly declined 60 min after injection of ACTH in AAD without RAF (−0.15 normalized protein expression [NPX], P = .0001, and −0.25 NPX, P = .0003, respectively). Conclusions We show that cardiovascular and inflammatory biomarkers are altered in AAD compared with controls, particularly in women. RAGE might be a marker of disease severity in AAD, associated with more adrenal crises and reduced QoL. High ACTH reduced PDL2 and leptin levels in a glucocorticoid-independent manner but the overall effect on biomarker profiles was small.

• Åkerman, Anna-Karin; Sævik, Åse Bjorvatn; Thorsby, Per Medbøe; Methlie, Paal; Quinkler, Marcus & Jørgensen, Anders Palmstrøm [Show all 26 contributors for this article] (2023). Plasma-Metanephrines in Patients with Autoimmune Addison’s Disease with and without Residual Adrenocortical Function. Journal of Clinical Medicine. 12:3602(10), p. 1–10. doi: 10.3390/jcm12103602. Full text in Research Archive Show summary

  Purpose: Residual adrenocortical function, RAF, has recently been demonstrated in one-third of patients with autoimmune Addison's disease (AAD). Here, we set out to explore any influence of RAF on the levels of plasma metanephrines and any changes following stimulation with cosyntropin. Methods: We included 50 patients with verified RAF and 20 patients without RAF who served as controls upon cosyntropin stimulation testing. The patients had abstained from glucocorticoid and fludrocortisone replacement > 18 and 24 h, respectively, prior to morning blood sampling. The samples were obtained before and 30 and 60 min after cosyntropin stimulation and analyzed for serum cortisol, plasma metanephrine (MN), and normetanephrine (NMN) by liquid-chromatography tandem-mass pectrometry (LC-MS/MS). Results: Among the 70 patients with AAD, MN was detectable in 33%, 25%, and 26% at baseline, 30 min, and 60 min after cosyntropin stimulation, respectively. Patients with RAF were more likely to have detectable MN at baseline (p = 0.035) and at the time of 60 min (p = 0.048) compared to patients without RAF. There was a positive correlation between detectable MN and the level of cortisol at all time points (p = 0.02, p = 0.04, p < 0.001). No difference was noted for NMN levels, which remained within the normal reference ranges. Conclusion: Even very small amounts of endogenous cortisol production affect MN levels in patients with AAD.

• Sharma, Archana; Lee-Ødegård, Sindre; Qvigstad, Elisabeth; Sommer, Christine; Sattar, Naveed & Gill, Jason M.R. [Show all 10 contributors for this article] (2022). β-Cell Function, Hepatic Insulin Clearance, and Insulin Sensitivity in South Asian and Nordic Women After Gestational Diabetes Mellitus. Diabetes. ISSN 0012-1797. 71(12), p. 2530–2538. doi: 10.2337/db22-0622. Full text in Research Archive Show summary

  South Asian women have a higher risk of type 2 diabetes after gestational diabetes mellitus (GDM) than Nordic women; however, the mechanisms behind this difference remain unclear. We investigated insulin sensitivity, β-cell function, and hepatic insulin clearance in 179 South Asian and 108 Nordic women ∼17 months after GDM (mean age 35.3 years, BMI 29.1 kg/m2) by oral glucose tolerance test using deconvolution of C-peptide kinetics. Thirty-one percent of South Asian and 53% of Nordic participants were normoglycemic at the time of measurement. South Asian women had higher areas under the curve (AUCs) for glucose, prehepatic insulin, and peripheral insulin and lower insulin sensitivity, disposition index, and fasting hepatic insulin clearance than Nordic women. In the group with prediabetes or diabetes, South Asian women had similar AUCs for glucose and prehepatic insulin but a higher AUC for peripheral insulin, lower disposition index, and lower fasting hepatic insulin clearance than Nordic women. The waist-to-height ratio mediated ∼25–40% of the ethnic differences in insulin sensitivity in participants with normoglycemia. Overall, our novel data revealed that South Asian women with normoglycemia after GDM showed lower insulin secretion for a given insulin resistance and lower hepatic insulin clearance than Nordic women. South Asian women are at high risk of developing type 2 diabetes after GDM, and preventive efforts should be prioritized.

• Fernandez, Manuel Carrasco; Wang, Chencheng; Søviknes, Anne Mette; Bjørlykke, Yngvild; Abadpour, Shadab & Paulo, Joao A. [Show all 16 contributors for this article] (2022). Spatial Environment Affects HNF4A Mutation-Specific Proteome Signatures and Cellular Morphology in hiPSC-Derived β-Like Cells. Diabetes. ISSN 0012-1797. 71(4), p. 862–869. doi: 10.2337/db20-1279. Full text in Research Archive Show summary

  Studies of monogenic diabetes are particularly useful because we can gain insight into the molecular events of pancreatic β-cell failure. Maturity-onset diabetes of the young 1 (MODY1) is a form of monogenic diabetes caused by a mutation in the HNF4A gene. Human-induced pluripotent stem cells (hiPSCs) provide an excellent tool for disease modeling by subsequently directing differentiation toward desired pancreatic islet cells, but cellular phenotypes in terminally differentiated cells are notoriously difficult to detect. Re-creating a spatial (three-dimensional [3D]) environment may facilitate phenotype detection. We studied MODY1 by using hiPSC-derived pancreatic β-like patient and isogenic control cell lines in two different 3D contexts. Using size-adjusted cell aggregates and alginate capsules, we show that the 3D context is critical to facilitating the detection of mutation-specific phenotypes. In 3D cell aggregates, we identified irregular cell clusters and lower levels of structural proteins by proteome analysis, whereas in 3D alginate capsules, we identified altered levels of glycolytic proteins in the glucose sensing apparatus by proteome analysis. Our study provides novel knowledge on normal and abnormal function of HNF4A, paving the way for translational studies of new drug targets that can be used in precision diabetes medicine in MODY.

• Sharma, Archana; Nermoen, Ingrid; Qvigstad, Elisabeth; Tran, Anh Thi; Sommer, Christine & Sattar, Naveed [Show all 10 contributors for this article] (2022). High prevalence and significant ethnic differences in actionable HbA1C after gestational diabetes mellitus in women living in Norway. BMC Medicine. 20(1), p. 1–10. doi: 10.1186/s12916-022-02515-w. Full text in Research Archive Show summary

  Background The type 2 diabetes risk after gestational diabetes mellitus (GDM) is twice as high in South Asian compared to European women. Current guidelines differ regarding which test to use as a screening-tool post-GDM. We aimed to identify ethnic differences in the prevalence rates and early predictors for actionable HbA1c (defined as prediabetes and diabetes) short time after GDM. Methods This cross-sectional study, enrolling South Asian and Nordic women 1–3 years after a diagnosis of GDM, was undertaken at three hospitals in Norway. We performed a clinical and laboratory evaluation including an oral glucose tolerance test (OGTT). Medical records were used to retrieve data during pregnancy. Prediabetes was classified with HbA1c alone or combined with OGTT glucose measurements according to the WHO, WHO-IEC, and ADA criteria (fasting plasma glucose (FPG) 6.1–6.9 mmol/L, FPG 6.1–6.9 mmol/L and/or HbA1c 42-47 mmol/mol (6.0-6.4%), and FPG 5.6–6.9 mmol/L and/or HbA1c 39-47 mmol/mol (5.7-6.4%)). Ethnic differences in prevalence and predictors of glucose deterioration were assed by χ2 (Pearson) tests and logistic regression models. Results We included 163 South Asian and 108 Nordic women. Actionable HbA1c levels were highly prevalent and more so among South Asian than Nordic women (WHO-IEC-HbA1c: 25.8% vs. 6.5% (p ≤ 0.001), ADA-HbA1c: 58.3% vs. 22.2% (p ≤ 0.001)). Although adding OGTT-data gave higher combined prevalence rates of prediabetes and diabetes (WHO: 65.6% vs. 47.2% (p ≤ 0.05), WHO-IEC: 70.6% vs. 47.2% (p ≤ 0.001), ADA: 87.8% vs. 65.7% (p ≤ 0.001)), the excess risk in the South Asian women was best captured by the HbA1c. Important predictors for glucose deterioration after GDM were: South Asian ethnicity, GDM before the index pregnancy, use of glucose-lowering drugs in pregnancy, higher age, and higher in-pregnancy fasting glucose levels. Conclusions In women with GDM 1–3 year previously, we found high prevalence and significant ethnic differences in actionable ADA-HbA1c levels, with South Asian ethnicity, GDM before the index pregnancy, and the use of glucose-lowering drugs in pregnancy as the most important risk factors. This study reinforces the importance of annual screening—preferably with HbA1c measurements—to facilitate early intervention after GDM.

• Sharma, Archana; Birkeland, Kåre I.; Nermoen, Ingrid; Qvigstad, Elisabeth; Tran, Anh T. & Gulseth, Hanne L. [Show all 9 contributors for this article] (2021). Understanding mechanisms behind unwanted health behaviours in Nordic and South Asian women and how they affect their gestational diabetes follow-ups: A qualitative study. Diabetic Medicine. ISSN 0742-3071. 38(10), p. 1–12. doi: 10.1111/dme.14651. Full text in Research Archive Show summary

  Aims: The type 2 diabetes risk following gestational diabetes mellitus (GDM) is high, particularly among South Asian women in Western countries. Our study aimed to advance the knowledge regarding the mechanisms behind suboptimal follow-up in the Nordic and South Asian women with previous GDM by comparing (1) their experiences, (2) health and disease perceptions and (3) barriers to and facilitators of health-promoting behaviours. Methods: This qualitative study was conducted in three hospital outpatient clinics in Norway, comprising six focus group interviews with 28 women 1–3 years after a pregnancy with GDM. The participants were purposively sampled and grouped according to their ethnicity. The data were analysed using thematic analysis, and a theoretical approach was applied to support the analysis and discuss the study's findings. Results: Five main themes were identified: lack of resilience, emotional distress, ‘caught between a rock and a hard place’, postpartum abandonment and insufficient guidance. The key determinants of the maintenance of unwanted health behaviours after GDM were consistent across the ethnic groups. Although the importance of a culturally sensitive approach was emphasised, it appeared secondary to the need for a more organised public healthcare during and after GDM. Conclusions: Women's real-life constraints, combined with the inadequate healthcare-service implementation, could explain the non-adherence to the lifestyle-changes guidelines essential for preventing diabetes post-GDM. We suggest promoting specific coping strategies and changing the healthcare service approach rather than relying on women's capacity to initiate the necessary changes.

• Nermoen, Ingrid & Falhammar, Henrik (2020). Prevalence and characteristics of adrenal tumors and myelolipomas in congenital adrenal hyperplasia: A systematic review and meta-analysis. Endocrine Practice. ISSN 1530-891X. 26(11), p. 1351–1365. doi: 10.4158/EP-2020-0058. Full text in Research Archive Show summary

  Objective: The prevalence of adrenal tumors in congenital adrenal hyperplasia (CAH) is uncertain. Our objective was to estimate the prevalence and characteristics of adrenal tumors and myelolipoma in CAH, and investigate clinical features of this population. Methods: We carried out systematic searches in Medline Ovid and Embase for articles published until January, 2020. Studies with confirmed CAH, biochemically and/or genetically, were included. The two authors independently extracted data from each study. Results: Six cohort studies were included in the prevalence calculation. In addition, 32 case reports on adrenal myelolipomas and CAH were included. The prevalence of adrenal tumors in CAH was 29.3%. When only studies with genetically verified cytochrome P450, Family 21, subfamily A, polypeptide 2 gene (CYP21A2) mutations were included the prevalence was 23.6%. The prevalence of myelolipoma in CAH was 7.4% (verified CYP21A2 mutations 8.6%). The proportion of myelolipoma in the adrenal tumors was 25.4% (genetically verified 36.6%). The median (range) age at tumor diagnosis was 36.0 (12 to 60) years and there were more tumors in males than in females (37.9% versus 22.1%; P<.05). In patients with myelolipomas, 93.5% had an undiagnosed or poorly managed CAH. Conclusion: Patients with CAH had a high prevalence of adrenal tumors, particularly myelolipomas. Those with myelolipomas had a high frequency of late-diagnosed or poorly controlled CAH. Adrenal imaging may be considered in patients with CAH, especially if abdominal pain is present.

• Hatlen, Kristine Vaage; Sharma, Archana & Nermoen, Ingrid (2020). Servere ketoacidosis in a patient taking an SLGT2 inhibitorfor diabetes. Tidsskrift for Den norske legeforening (Tidsskriftet). ISSN 0029-2001. 140(12), p. 1–4. doi: 10.4045/tidsskr.19.0826. Full text in Research Archive
• Grønning, Kaja; Sharma, Archana; Mastroianni, Maria Adele; Karlsson, Bo Daniel; Husebye, Eystein Sverre & Løvås, Kristian [Show all 7 contributors for this article] (2020). Primary adrenal lymphoma as a cause of adrenal insufficiency, a report of two cases. Endocrinology, Diabetes & Metabolism. 2020(1), p. 1–5. doi: 10.1530/EDM-19-0131. Full text in Research Archive Show summary

  Primary adrenal lymphoma (PAL) is a rare cause of adrenal insufficiency. More than 90% is of B-cell origin. The condition is bilateral in up to 75% of cases, with adrenal insufficiency in two of three patients. We report two cases of adrenal insufficiency presenting at the age of 70 and 79 years, respectively. Both patients had negative 21-hydroxylase antibodies with bilateral adrenal lesions on CT. Biopsy showed B-cell lymphoma. One of the patients experienced intermittent disease regression on replacement dosage of glucocorticoids. Learning points: Primary adrenal lymphoma (PAL) is a rare cause of adrenal insufficiency. Bilateral adrenal masses of unknown origin or in individuals with suspected extra-adrenal malignancy should be biopsied quickly when pheochromocytoma is excluded biochemically. Steroid treatment before biopsy may affect diagnosis. Adrenal insufficiency with negative 21-hydroxylase antibodies should be evaluated radiologically.

• Sævik, Åse Bjorvatn; Åkerman, Anna-Karin; Methlie, Paal; Quinkler, Marcus; Jørgensen, Anders Palmstrøm & Høybye, Charlotte [Show all 26 contributors for this article] (2020). Residual Corticosteroid Production in Autoimmune Addison Disease. Journal of Clinical Endocrinology and Metabolism (JCEM). ISSN 0021-972X. 105(7), p. 2430–2441. doi: 10.1210/clinem/dgaa256. Full text in Research Archive Show summary

  Design: Two-staged, cross-sectional clinical study in 17 centers (Norway, Sweden, and Germany). Residual glucocorticoid (GC) production was defined as quantifiable serum cortisol and 11-deoxycortisol and residual mineralocorticoid (MC) production as quantifiable serum aldosterone and corticosterone after > 18 hours of medication fasting. Corticosteroids were analyzed by liquid chromatography–tandem mass spectrometry. Clinical variables included frequency of adrenal crises and quality of life. Peak cortisol response was evaluated by a standard 250 µg cosyntropin test. Results: Fifty-eight (30.2%) of 192 patients had residual GC production, more common in men (n = 33; P < 0.002) and in shorter disease duration (median 6 [0-44] vs 13 [0-53] years; P < 0.001). Residual MC production was found in 26 (13.5%) patients and associated with shorter disease duration (median 5.5 [0.5-26.0] vs 13 [0-53] years; P < 0.004), lower fludrocortisone replacement dosage (median 0.075 [0.050-0.120] vs 0.100 [0.028-0.300] mg; P < 0.005), and higher plasma renin concentration (median 179 [22-915] vs 47.5 [0.6-658.0] mU/L; P < 0.001). There was no significant association between residual production and frequency of adrenal crises or quality of life. None had a normal cosyntropin response, but peak cortisol strongly correlated with unstimulated cortisol (r = 0.989; P < 0.001) and plasma adrenocorticotropic hormone (ACTH; r = –0.487; P < 0.001). Conclusion: In established AAD, one-third of the patients still produce GCs even decades after diagnosis. Residual production is more common in men and in patients with shorter disease duration but is not associated with adrenal crises or quality of life. (J Clin Endocrinol Metab 105: 1–12, 2020) Key words: Adrenal failure; adrenal steroids; Autoimmune Addison disease; cortisol; primary adrenal insufficiency; residual function

• Daae, Elisabeth; Feragen, Kristin Judith Billaud; Nermoen, Ingrid & Falhammar, Henrik (2018). Psychological adjustment, quality of life, and self-perceptions of reproductive health in males with congenital adrenal hyperplasia: a systematic review. Endocrine. ISSN 1355-008X. 62(1), p. 3–13. doi: 10.1007/s12020-018-1723-0. Full text in Research Archive Show summary

  Purpose Congenital adrenal hyperplasia (CAH) has been shown to potentially affect psychological adjustment. However, most research has focused on females, and knowledge about psychological challenges in males remains sparse. The aim of this systematic review was therefore to assess these in males with CAH. Methods We systematically searched the OVID Medline, PsycINFO, CINAHL, and Web of Science databases, for articles published up to April 20, 2018, investigating psychological adjustment in males with CAH. Results Eleven studies were included in the review. Three main health domains were identified: psychological and psychiatric health, quality of life (QoL), and self-perceptions of reproductive health. Some studies covered more than one health domain. Seven studies explored psychological adjustment and/or the presence of psychiatric symptoms or disorders. Results indicated that males with CAH had more problems related to internalizing behaviors (negative behaviors directed toward the self) and more negative emotionality compared to reference groups. Six studies examined QoL, five of them reporting reduced QoL compared to reference groups. Three studies explored the impact of fertility and sexual health issues on psychological health with varying results from impaired to normal sexual well-being. Conclusions CAH seems to have an impact on males' psychological health. However, the number of identified studies was limited, included few participants, and revealed divergent findings, demonstrating the need for larger studies and highlighting a number of methodological challenges that should be addressed by future research.

• Dahl, Sandra Rinne; Nermoen, Ingrid; Brønstad, Ingeborg; Husebye, Eystein Sverre; Løvås, Kristian & Thorsby, Per Medbøe (2018). Assay of steroids by liquid chromatography-tandem mass spectrometry in monitoring 21-hydroxylase deficiency. Endocrine Connections. 7 (12), p. 1542–1550. doi: 10.1530/EC-18-0453. Full text in Research Archive Show summary

  Immunoassays of steroid hormones are still used in the diagnosis and monitoring of patients with congenital adrenal hyperplasia. However, cross-reactivity between steroids can give rise to falsely elevated steroid levels. Here, we compare the use of immunoassays and liquid chromatography–tandem mass spectrometry (LC–MS/MS) in the monitoring of patients with classic 21-hydroxylase deficiency (21OHD). Steroid profiles in different mutation groups (genotypes) were also compared. Fifty-five patients with classic 21OHD (38 women) were studied. Blood samples were collected in the morning after an overnight medication fast. LC–MS/MS and immunoassays were employed to assay 17-hydroxyprogesterone (17OHP), testosterone and androstenedione. In addition, 21-deoxycortisol (21DF), 11-deoxycortisol (11DF), corticosterone, deoxycorticosterone, cortisone and cortisol were analyzed by LC–MS/MS. Testosterone, androstenedione and 17OHP levels were consistently lower (by about 30–50%) when measured by LC–MS/MS compared with immunoassays, with exception of testosterone in men. There was a significant correlation between 21DF and 17OHP (r = 0.87, P < 0.001), but three patients had undetectable 21DF. Subjects with no enzyme activity had significantly lower mean 11DF concentrations than subjects with residual activity. The use of LC–MS/MS gives a more specific view of adrenal steroid levels in 21OHD compared with immunoassays, which seem to considerably overestimate the levels of 17OHP and androstenedione. Falsely elevated levels of 17OHP and androstenedione could lead to overtreatment with glucocorticoids.

• Sævik, Åse Bjorvatn; Åkerman, Anna Karin; Grønning, Kaja; Nermoen, Ingrid; Valland, Susanna Fonneland & Finnes, Trine Elisabeth [Show all 22 contributors for this article] (2017). Clues for early detection of autoimmune Addison's disease - myths and realities. Journal of Internal Medicine. ISSN 0954-6820. 283(2), p. 190–199. doi: 10.1111/joim.12699. Full text in Research Archive Show summary

  BACKGROUND: Early detection of autoimmune Addison's disease (AAD) is important as delay in diagnosis may result in a life-threatening adrenal crisis and death. The classical clinical picture of untreated AAD is well-described, but methodical investigations are scarce. OBJECTIVE: Perform a retrospective audit of patient records with the aim of identifying biochemical markers for early diagnosis of AAD. MATERIAL AND METHODS: A multicentre retrospective study including 272 patients diagnosed with AAD at hospitals in Norway and Sweden during 1978-2016. Scrutiny of medical records provided patient data and laboratory values. RESULTS: Low sodium occurred in 207 of 247 (84%), but only one-third had elevated potassium. Other common nonendocrine tests were largely normal. TSH was elevated in 79 of 153 patients, and hypoglycaemia was found in 10%. Thirty-three per cent were diagnosed subsequent to adrenal crisis, in whom electrolyte disturbances were significantly more pronounced (P < 0.001). Serum cortisol was consistently decreased (median 62 nmol L(-1) [1-668]) and significantly lower in individuals with adrenal crisis (38 nmol L(-1) [2-442]) than in those without (81 nmol L(-1) [1-668], P < 0.001). CONCLUSION: The most consistent biochemical finding of untreated AAD was low sodium independent of the degree of glucocorticoid deficiency. Half of the patients had elevated TSH levels. Only a minority presented with marked hyperkalaemia or other nonhormonal abnormalities. Thus, unexplained low sodium and/or elevated TSH should prompt consideration of an undiagnosed AAD, and on clinical suspicion bring about assay of cortisol and ACTH. Presence of 21-hydroxylase autoantibodies confirms autoimmune aetiology. Anticipating additional abnormalities in routine blood tests may delay diagnosis.

• Valderhaug, Tone Gretland; Sharma, Archana; Kravdal, Gunnhild; Rønningen, Reidun & Nermoen, Ingrid (2017). The usage of fasting glucose and glycated hemoglobin for the identification of unknown type 2 diabetes in high risk patients with morbid obesity. Scandinavian Journal of Clinical and Laboratory Investigation. ISSN 0036-5513. 77(7), p. 505–512. doi: 10.1080/00365513.2017.1347958. Full text in Research Archive Show summary

  Background: In spite of increased vigilance of undiagnosed type 2 diabetes (DM2), the prevalence of unknown DM2 in subjects with morbid obesity is not known. Aim: To assess the prevalence of undiagnosed DM2 and compare the performance of glycated A1c (HbA1c) and fasting glucose (FG) for the diagnosis of DM2 and prediabetes (preDM) in patients with morbid obesity. Patients and methods: We measured fasting glucose and HbA1c in 537 consecutive patients with morbid obesity without previously known DM2. Results: A total of 49 (9%) patients with morbid obesity had unknown DM2 out of which 16 (33%) fulfilled both the criteria for HbA1c and FG. Out of 284 (53%) subjects with preDM, 133 (47%) fulfilled both the criteria for HbA1c and FG. Measurements of agreement for FG and HbA1c were moderate for DM2 (κ = 0.461, p < .001) and fair for preDM (κ = 0.317, p < .001). Areas under the curve for FG and HbA1c in predicting unknown DM2 were 0.970 (95% CI 0.942, 0.998) and 0.894 (95% CI 0.837, 0.951) respectively. The optimal thresholds to identify unknown DM2 were FG ≥6.6 mmol/L and HbA1c ≥ 6.1% (43 mmol/mol). Conclusions: The prevalence of DM2 remains high and both FG and HbA1c identify patients with unknown DM2. FG was slightly superior to HbA1c in predicting and separating patients with unknown DM2 from patients without DM2. We suggest that an FG ≥6.6 mmol/L or an HbA1c ≥6.1% (43 mmol/mol) may be used as primary cut points for the identification of unknown DM2 among patients with morbid obesity.

• Brønstad, Ingeborg; Breivik, Lars Ertesvåg; Methlie, Paal; Wolff, Anette Susanne Bøe; Bratland, Eirik & Nermoen, Ingrid [Show all 8 contributors for this article] (2014). Functional studies of novel CYP21A2 mutations detected in Norwegian patients with congenital adrenal hyperplasia. Endocrine Connections. 15(3), p. 67–74. doi: 10.1530/EC-14-0032. Full text in Research Archive Show summary

  In about 95% of cases, congenital adrenal hyperplasia (CAH) is caused by mutations in CYP21A2 gene encoding steroid 21-hydroxylase (21OH). Recently, we have reported four novel CYP21A2 variants in the Norwegian population of patients with CAH, of which p.L388R and p.E140K were associated with salt wasting (SW), p.P45L with simple virilising (SV) and p.V211MCp.V281L with SV to non-classical (NC) phenotypes. We aimed to characterise the novel variants functionally utilising a newly designed in vitro assay of 21OH enzyme activity and structural simulations and compare the results with clinical phenotypes. CYP21A2 mutations and variants were expressed in vitro. Enzyme activity was assayed by assessing the conversion of 17-hydroxyprogesterone to 11-deoxycortisol by liquid chromatography tandem mass spectroscopy. PyMOL 1.3 was used for structural simulations, and PolyPhen2 and PROVEAN for predicting the severity of the mutants. The CYP21A2 mutants, p.L388R and p.E140K, exhibited 1.1 and 11.3% of wt 21OH enzyme activity, respectively, in vitro. We could not detect any functional deficiency of the p.P45L variant in vitro; although prediction tools suggest p.P45L to be pathogenic. p.V211M displayed enzyme activity equivalent to the wt in vitro, which was supported by in silico analyses. We found good correlations between phenotype and the in vitro enzyme activities of the SW mutants, but not for the SV p.P45L variant. p.V211M might have a synergistic effect together with p.V281L, explaining a phenotype between SV and NC CAH.

• Nermoen, Ingrid; Brønstad, Ingeborg; Fougner, Kristian J; Svartberg, Johan; Øksnes, Marianne & Husebye, Eystein Sverre [Show all 7 contributors for this article] (2012). Genetic, anthropometric and metabolic features of adult Norwegian patients with 21-hydroxylase deficiency. European Journal of Endocrinology (EJE). ISSN 0804-4643. 167(4), p. 507–516. doi: 10.1530/EJE-12-0196. Full text in Research Archive
• Nermoen, Ingrid; Rørvik, Jarle; Holmedal, Stein Harald; Hykkerud, Dan L; Fougner, Kristian J & Svartberg, Johan [Show all 8 contributors for this article] (2011). High frequency of adrenal myelolipomas and testicular adrenal rest tumours in adult Norwegian patients with classical congenital adrenal hyperplasia because of 21-hydroxylase deficiency. Clinical Endocrinology. ISSN 0300-0664. 75(6), p. 753–759. doi: 10.1111/j.1365-2265.2011.04151.x. Full text in Research Archive
• Radtke, Maria Anita; Nermoen, Ingrid; Kollind, Magnus; Skeie, Svein; Sørheim, Jan Inge & Svartberg, Johan [Show all 10 contributors for this article] (2010). Six Months of Diazoxide Treatment at Bedtime in Newly Diagnosed Subjects With Type 1 Diabetes Does Not Influence Parameters of beta-Cell Function and Autoimmunity but Improves Glycemic Control. Diabetes Care. ISSN 0149-5992. 33(3), p. 589–594. doi: 10.2337/dc09-1436. Full text in Research Archive
• Nermoen, Ingrid; Husebye, Eystein; Svartberg, Johan & Løvås, K (2010). Subjective health status in men and women with congenital adrenal hyperplasia: a population-based survey in Norway. European Journal of Endocrinology (EJE). ISSN 0804-4643. 163(3), p. 453–459. doi: 10.1530/EJE-10-0284. Full text in Research Archive
• Nermoen, Ingrid; Følling, Ivar; Vegge, Kjetil; Larmo, Arne; Nedrebø, Bjørn Gunnar & Husebye, Eystein Sverre [Show all 7 contributors for this article] (2009). Two adults with adrenal myelolipoma and 21-hydroxylase deficiency. Clinical Medicine : Case Reports. ISSN 1178-6450. doi: 10.1155/2009/916891. Full text in Research Archive
• Jensen, TK; Jørgensen, Niels; Punab, M.; Haugen, TB; Suominen, J & Zilaitiene, B [Show all 16 contributors for this article] (2004). Association of in utero exposure to maternal smoking with reduced semen quality and testis size in adulthood: a cross-sectional study of 1,770 young men from the general population in five European countries. American Journal of Epidemiology. ISSN 0002-9262. 159(1), p. 49–58. Full text in Research Archive
• Nermoen, Ingrid; Foss, Aksel; Holte, Harald; Mathisen, Øystein; Brekke, Inge Bjørn & Line, Pål Dag [Show all 7 contributors for this article] (2004). [Surgical treatment of hormone-producing adrenocortical carcinoma with liver metastases]. Tidsskrift for Den norske legeforening (Tidsskriftet). ISSN 0029-2001. 124(33), p. 3061–3063. Full text in Research Archive
• Jørgensen, Niels; Carlsen, Elisabeth; Nermoen, Ingrid; Punab, M.; Suominen, J. & Andersen, AG [Show all 15 contributors for this article] (2002). East-West gradient in semen quality in the Nordic-Baltic area: a study of men from the general population in Denmark, Norway, Estonia and Finland. Human Reproduction. ISSN 0268-1161. 17(8), p. 2199–2208. Full text in Research Archive
• Carlsen, Elisabeth; Andersen, AG; Jørgensen, Niels; Magnus, Øystein; matulevicuus, v & buchreitz, l [Show all 12 contributors for this article] (2000). Inter-observer variation in the results of the clinical andrological examination including estimation of testicular size. International Journal of Andrology. ISSN 0105-6263. 23(4), p. 248–253. Full text in Research Archive
• Nermoen, Ingrid; Jorde, Rolf; Sager, Georg; Sundsfjord, J. & Birkeland, Kari (1998). Effects of exercise on hypoglycaemic responses in insulin-dependent diabetes mellitus. Diabetes & Metabolism. ISSN 1262-3636. 24(2), p. 131–136. Full text in Research Archive

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• Wammer, Anne Cathrine Parelius; Nermoen, Ingrid; Thorsby, Per Medbøe; Bolstad, Nils; Lima, Kari & Tran, Hoa Thi Tuyet [Show all 7 contributors for this article] (2023). Insulin autoimmune syndrome: not just one but two different diseases with therapeutic implications. Endocrinology, Diabetes and Metabolism Case Reports. 2023(4). doi: 10.1530/EDM-23-0032. Full text in Research Archive Show summary

  We present a young woman with treatment resistant insulin autoimmune syndrome (IAS) with a protracted course. Her serum insulin level was 6945 pmol/l (<160), C-peptide 4042 pmol/L (<1480), anti-insulin antibodies 5305 U/mL (<0.4) were monoclonal IgG kappa. After 12 h of fasting, her blood glucose fell to 1.2 mmol/L. Post-meal blood glucose peaked at 12.2 mmol/L with reactive hypoglycaemia below 2 mmol/L. Frequent meals and continuous blood glucose monitoring were helpful, but further treatments advocated in the literature with prednisolone, rituximab, plasmapheresis, cyclophosphamide and ciclosporin were without beneficial effect. Based on this case and a review of the literature, we propose that IAS is not one but two different diseases with different therapeutic strategies. The first disease, polyclonal IAS, predominates in Asia and is characterized by polyclonal anti-insulin antibodies, association with certain HLA genotypes and other autoimmune conditions, medications and viral infections possibly triggering the disease, a possible female predominance among young patients and a tendency towards spontaneous remission. The other disease, monoclonal IAS, predominates in Caucasians. Typical features are monoclonal anti-insulin antibodies, only weak HLA association, no drug predisposition, no sex difference, rare remission and conventional therapy often being without any clinical effect. We suggest that monoclonal IAS with IgG or IgA anti-insulin antibodies should receive therapy targeting plasma cells rather than lymphocytes.

• Nermoen, Ingrid (2022). Forstyrrelser i salt-og vannreguleringen og endokrin hypertensjon. In Birkeland, Kåre Inge; Gullestad, Lars & Aabakken, Lars (Ed.), Indremedisin I. Fagbokforlaget. ISSN 9788245043365. p. 283–293. Full text in Research Archive
• Nermoen, Ingrid; Sharma, Archana & Hatlen, Kristine Vaage (2022). SGLT2-hemmere ved akutte innleggelser og operasjoner. Indremedisineren. ISSN 1891-1617. 4, p. 16–19. Full text in Research Archive
• Nermoen, Ingrid; Husebye, Eystein Sverre; Myhre, Anne Grethe & Løvås, Kristian (2017). Klassisk medfødt binyrebarkhyperplasi. Tidsskrift for Den norske legeforening (Tidsskriftet). ISSN 0029-2001. 137(7), p. 540–543. doi: 10.4045/tidsskr.16.0376. Full text in Research Archive
• Følling, Ivar; Lima, Kari & Nermoen, Ingrid (2017). Forstyrrelse i salt-og vannhusholdningen og endokrin hypertensjon, Indremedisin I & II. Forlaget Vett & Viten AS. ISSN 9788241207402. p. 295–305. Full text in Research Archive
• Radtke, Maria Anita; Nermoen, Ingrid; Kollind, Magnus; Skeie, Svein; Sørheim, Jan Inge & Svartberg, Johan [Show all 7 contributors for this article] (2009). A 6-month treatment with diazoxide at bedtime in newly diagnosed subjects with type 1 diabetes does not influence measured parameters of beta cell function, but improves glycaemic control. Diabetologia. ISSN 0012-186X. 52, p. S385–S385. Full text in Research Archive
• Nermoen, Ingrid (2013). Congenital Adrenal Hyperplasia in Adults: Epidemiological, Genetic, Clinical and Endocrine Features of CYP21A2 Deficiency in Norway. Universitetet i Oslo. Full text in Research Archive Show summary

  Background: Congenital adrenal hyperplasia (CAH) is an inherited recessive disorder, in which enzymes in the adrenal cortex are mutated. The most common form is caused by alterations in CYP21A2, the gene encoding the adrenal steroid 21-hydroxylase enzyme. The consequences are impaired production of cortisol and aldosterone, leading to increased ACTH driven production of adrenal androgens, resulting in virilisation of the female. The patients require life-long treatment with glucocorticoid and mineralocorticoid tablets.<br> Objective: No published data on CAH in Norway existed when we started our survey. Our aim was to obtain confident epidemiological data from Norway and to describe clinical and genetic aspects in adults with CAH due to 21-hydroxylase deficiency. Specific aims were to describe health-related quality of life and working ability, and the frequency of testicular and adrenal tumours.<br> Material and methods: Epidemiological data were obtained by scrutiny medical reports at all the University Hospitals in Norway and by contacting endocrinologists throughout the country. First, the patients were invited to a questionnaire survey including medical history, and the Short Form-36 and Quality of Life Scale questionnaire. Second, they were invited to participate in clinical, biochemical and radiological investigations at four University Hospitals, including anthropometric measurements, that is, dual X-ray absorptiometry scanning, adrenal computed tomography, testicular ultrasound, DNA sequencing of CYP21A2 and hormone analyses.<br> Results: We showed lower incidence of CAH than expected and especially than that of our neighbouring country Sweden. Fewer males than females with CAH were identified although equal sex ratio was expected. As a group the patients had increased working disability and reduced physical and mental health as compared with the normal population. The women had decreased fertility. We found a high frequency of adrenal tumours, particularly myelolipomas, and testicular adrenal rest tumours only associated with salt wasting. The patients had normal BMI but markedly higher fat mass, higher diastolic blood pressure and lower bone mineral density than the general population. We showed higher frequency of osteopenia among the men than the women. Near half of the women had testosterone levels above the normal range and half of the subjects had 17-hydroxyprogesterone (17-OHP) levels above the upper recommended target.We identified four novel and plausibly disease-causing CYP21A2 mutations and, as expected, high correspondence between genotype and clinical phenotype. The frequency of the underlying genetic defects was similar to published results from other Western European countries.<br> Conclusion: Adult men with CAH were missing and perhaps never diagnosed. Androgen levels and 17- OHP-levels were poorly controlled. We found reduced BMD, impaired quality of life, and increased frequency of adrenal tumours, and in females impaired fertility. These findings may reflect inappropriate glucocorticoid and mineralocorticoid therapy and need for improvement of the medical treatment and general care of adults with CAH.

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